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Clinical, Ultrastructural, Histochemical, and Chemical Studies of a Case, Including a Brain Biopsy

Isabel Tellez-Nagel, MD; Isabelle Rapin, MD; Takeo Iwamoto, MD; Anne B. Johnson, MD; William T. Norton, PhD; Harold Nitowsky, MD

Arch Neurol. 1976;33(12):828-835.

Abstract
• A 7-year-old Ashkenazi Jewish boy with normal early development started to regress at 8 months of age and made no further developmental progress. Corneal clouding was noted at age 10 months. Corneal and conjunctival biopsy at 14 months, cerebral biopsy at 24 months, and fibroblast cultures at 32 months showed lysosomal inclusions, suggesting the storage of lipid-like and mucopolysaccharide-like material. In the brain, dense fluorescent inclusions resembled those in ceroid-lipofuscinosis. Total ganglioside content of white matter was raised, but the pattern was normal. The level of nonlipid hexosamine in the brain was normal. The cornea and conjunctiva contained electronlucent vacuoles resembling those in the mucopolysaccharidoses. Cornea, brain, and lymphocytes contained concentric membranous lamellar structures reminiscent of those in the gangliosidoses. The clinical picture and ultrastructural findings support the impression that this case belongs to a new variant of the mucolipidoses, mucolipidosis IV.

Author Affiliations
From the departments of pathology (neuropathology) (Dr Johnson), medicine (Dr Tellez-Nagel), pediatrics (Drs Rapin and Nitowsky), the Saul R. Korey Department of Neurology (Drs Rapin and Norton), and the Rose F. Kennedy Center for Research in Mental Retardation and Human Development (Dr Nitowsky), Albert Einstein College of Medicine, Bronx, NY, and the Eye Institute (Dr Iwamoto), Columbia University College of Physicians and Surgeons, New York.

Footnotes
Accepted for publication March 15, 1976.

Reprint requests to Albert Einstein College of Medicine, 1300 Morris Park Ave, Bronx, NY 10461 (Dr Tellez-Nagel).

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